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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA. Evrony GD, et al. Among authors: hill rs. Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19. Genome Res. 2017. PMID: 28630177 Free PMC article.
G protein-coupled receptor-dependent development of human frontal cortex.
Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Déscarie JC, Barkovich AJ, Walsh CA. Piao X, et al. Among authors: hill rs. Science. 2004 Mar 26;303(5666):2033-6. doi: 10.1126/science.1092780. Science. 2004. PMID: 15044805
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA. Sheen VL, et al. Among authors: hill rs. Brain Dev. 2004 Aug;26(5):326-34. doi: 10.1016/j.braindev.2003.09.004. Brain Dev. 2004. PMID: 15165674
Neocortical neuronal arrangement in Miller Dieker syndrome.
Sheen VL, Ferland RJ, Neal J, Harney M, Hill RS, Banham A, Brown P, Chenn A, Corbo J, Hecht J, Folkerth R, Walsh CA. Sheen VL, et al. Among authors: hill rs. Acta Neuropathol. 2006 May;111(5):489-96. doi: 10.1007/s00401-005-0010-3. Epub 2006 Feb 3. Acta Neuropathol. 2006. PMID: 16456669
Cerebellar ataxia with progressive improvement.
Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Tsao JW, et al. Among authors: hill rs. Arch Neurol. 2006 Apr;63(4):594-7. doi: 10.1001/archneur.63.4.594. Arch Neurol. 2006. PMID: 16606775
164 results